Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Padi6'

475845

Institutional Source

Beutler Lab

Gene Symbol

Padi6

Ensembl Gene

ENSMUSG00000040935

Gene Name

peptidyl arginine deiminase, type VI

Synonyms

ePAD, Padi5, Pad6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140454666-140469954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140462700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 307 (L307P)

Ref Sequence

ENSEMBL: ENSMUSP00000044044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038749] [ENSMUST00000130267]

AlphaFold

Q8K3V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000038749
AA Change: L307P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044044
Gene: ENSMUSG00000040935
AA Change: L307P

Domain	Start	End	E-Value	Type
Pfam:PAD_N	1	112	5.6e-38	PFAM
Pfam:PAD_M	114	269	6e-53	PFAM
Pfam:PAD	280	679	4.7e-149	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125046

Predicted Effect

probably benign
Transcript: ENSMUST00000130267

SMART Domains

Protein: ENSMUSP00000123490
Gene: ENSMUSG00000040935

Domain	Start	End	E-Value	Type
Pfam:PAD_M	39	191	1.1e-57	PFAM

Meta Mutation Damage Score

0.1502

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit altered oocyte cytoplasmic structures that lead to a failure of zygotes to progress beyond the 2 cell stage and female infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,020 (GRCm39)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,802,663 (GRCm39)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,571,008 (GRCm39)	G1242S	probably benign	Het
Ano9	T	A	7: 140,684,037 (GRCm39)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Btnl9	T	C	11: 49,060,503 (GRCm39)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,240,002 (GRCm39)	S225T	probably benign	Het
Clca4b	T	C	3: 144,617,120 (GRCm39)	I843M	probably benign	Het
Cntn4	G	A	6: 106,414,925 (GRCm39)		probably null	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,134,216 (GRCm39)	V41M	probably damaging	Het
Duox1	T	C	2: 122,170,597 (GRCm39)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm39)		probably null	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,122,195 (GRCm39)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,692,873 (GRCm39)	F49S	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7104	A	T	12: 88,252,498 (GRCm39)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,355,747 (GRCm39)	H46R	probably damaging	Het
Herc2	T	C	7: 55,803,176 (GRCm39)	V2175A	probably benign	Het
Hey1	T	C	3: 8,729,951 (GRCm39)	S169G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hlf	T	C	11: 90,236,661 (GRCm39)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,751,448 (GRCm39)	A92E	probably damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kif2a	A	G	13: 107,113,264 (GRCm39)	I455T	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,798,637 (GRCm39)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,583,475 (GRCm39)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,666,273 (GRCm39)		probably null	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Mdh1b	G	A	1: 63,750,690 (GRCm39)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,314,650 (GRCm39)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or52k2	T	C	7: 102,253,783 (GRCm39)	V74A	possibly damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Parp9	T	C	16: 35,768,578 (GRCm39)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,101,703 (GRCm39)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,717,943 (GRCm39)	L294F	probably benign	Het
Radil	A	G	5: 142,492,611 (GRCm39)	L339P	probably damaging	Het
Raver1	G	A	9: 20,990,573 (GRCm39)	P316S	possibly damaging	Het
Rell1	A	G	5: 64,084,330 (GRCm39)		probably null	Het
Rxrg	A	G	1: 167,463,269 (GRCm39)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Unc13a	A	C	8: 72,082,339 (GRCm39)	C1642G	probably benign	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Wrn	A	G	8: 33,807,582 (GRCm39)	M292T	probably damaging	Het
Zfp423	A	G	8: 88,508,959 (GRCm39)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,234,345 (GRCm39)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Padi6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Padi6	APN	4	140,454,934 (GRCm39)	missense	possibly damaging	0.56
IGL01013:Padi6	APN	4	140,456,314 (GRCm39)	missense	probably damaging	0.98
IGL01068:Padi6	APN	4	140,458,264 (GRCm39)	missense	possibly damaging	0.70
IGL01945:Padi6	APN	4	140,469,235 (GRCm39)	missense	probably benign	0.24
streetwise	UTSW	4	140,468,869 (GRCm39)	nonsense	probably null
R0097:Padi6	UTSW	4	140,458,268 (GRCm39)	missense	probably benign	0.09
R0097:Padi6	UTSW	4	140,458,268 (GRCm39)	missense	probably benign	0.09
R0135:Padi6	UTSW	4	140,464,663 (GRCm39)	missense	probably benign	0.04
R0437:Padi6	UTSW	4	140,456,240 (GRCm39)	missense	probably benign	0.01
R1581:Padi6	UTSW	4	140,463,147 (GRCm39)	missense	probably damaging	1.00
R2024:Padi6	UTSW	4	140,456,279 (GRCm39)	missense	possibly damaging	0.78
R3150:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3176:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3177:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R3276:Padi6	UTSW	4	140,462,700 (GRCm39)	missense	probably damaging	1.00
R4168:Padi6	UTSW	4	140,469,245 (GRCm39)	missense	probably damaging	0.99
R4727:Padi6	UTSW	4	140,458,506 (GRCm39)	missense	probably damaging	1.00
R5063:Padi6	UTSW	4	140,469,191 (GRCm39)	missense	probably benign	0.01
R5382:Padi6	UTSW	4	140,458,521 (GRCm39)	missense	probably damaging	1.00
R5408:Padi6	UTSW	4	140,454,996 (GRCm39)	missense	probably damaging	1.00
R5604:Padi6	UTSW	4	140,458,473 (GRCm39)	missense	probably damaging	0.96
R5790:Padi6	UTSW	4	140,459,569 (GRCm39)	missense	probably damaging	1.00
R7084:Padi6	UTSW	4	140,468,869 (GRCm39)	nonsense	probably null
R7533:Padi6	UTSW	4	140,458,506 (GRCm39)	missense	probably damaging	1.00
R7581:Padi6	UTSW	4	140,456,240 (GRCm39)	missense	probably benign	0.01
R7662:Padi6	UTSW	4	140,456,306 (GRCm39)	missense	probably benign	0.00
R7766:Padi6	UTSW	4	140,458,286 (GRCm39)	missense	probably benign	0.02
R7872:Padi6	UTSW	4	140,455,073 (GRCm39)	missense	probably damaging	1.00
R8333:Padi6	UTSW	4	140,464,687 (GRCm39)	missense	probably damaging	1.00
R8347:Padi6	UTSW	4	140,462,719 (GRCm39)	missense	probably benign	0.00
R8550:Padi6	UTSW	4	140,460,014 (GRCm39)	missense	probably benign	0.15
R8979:Padi6	UTSW	4	140,466,474 (GRCm39)	missense	probably benign	0.03
R9628:Padi6	UTSW	4	140,464,626 (GRCm39)	missense	probably damaging	1.00
RF007:Padi6	UTSW	4	140,457,054 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11